E50D (p.Glu50Asp) variant of IRS1 (Insulin receptor substrate 1)
E50D (p.Glu50Asp) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- TOPMed rs1251410242
- gnomAD rs1251410242
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.61
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)